丹尼索瓦人,尼安德特人和现代人类的MUC19基因:反复侵入和自然选择的进化历史
Fernando A Villanea1, David Peede2,3,4, Eli J Kaufman5
1Department of Anthropology, University of Colorado Boulder.
bioRxiv : the preprint server for biology
|October 9, 2023
概括
现代人类携带了一种类似丹尼索瓦的MUC19基因变异,在古代美洲土著人中频率最高. 这种古老的丹尼索瓦类的MUC19单体样本显示出积极的选择,并起源于尼安德特人.
科学领域:
- 遗传学 遗传学 是一个
- 人类进化人类进化
- 古遗传学是古遗传学的一部分.
背景情况:
- MUC19基因编码一种粘素,一种对各种生物功能至关重要的糖蛋白.
- 现代人类拥有MUC19基因的丹尼索瓦人样类型,这表明古老的内进.
- 了解古老等位基因的进化历史和功能影响至关重要.
研究的目的:
- 在人类群体中调查类似丹尼索瓦的MUC19亚型的流行率和进化意义.
- 确定类似丹尼索瓦的MUC19单元型的起源及其潜在的选择性压力.
- 探索古老的侵入在塑造人类遗传多样性的作用.
主要方法:
- 在现代和古代人类DNA中对MUC19基因变异和复制数变异 (CNVs) 的基因组分析.
- 高通量测序和基因型鉴定用于识别丹尼索瓦类MUC19单元型的诊断变异.
- 种群遗传分析,包括频率分布和积极选择的测试.
主要成果:
- 类似于丹尼索瓦的MUC19单元型在混合的拉丁美洲和古代美洲土著人口中高频率被发现.
- 这种单双型的特点是增加30个基对变量数串重复 (VNTR) 的副本数量.
- 在美国人群中检测到积极选择对MUC19 VNTR副本数起作用的证据,这代表了在编码地点和 VNTRs 的古老等位基因上进行选择的新奇实例.
结论:
- 与丹尼索瓦人相似的MUC19原型,其高VNTR复制数,是通过尼安德特人而不是丹尼索瓦人进入人类基因库的.
- 积极选择在美国人群中对这种古老的等位基因起到了作用,突出显示了它的适应性意义.
- 这项研究提供了对影响编码位和VNTR的古老基因的积极选择的第一个证据,为人类适应和混合提供了洞察力.
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